05 February 2018


A new strategy of human pedigree analysis has implicated DNA repair and packaging in multiple myeloma.

Nicola Camp and Rosalie Waller, of the Huntsman Cancer Institute at the University of Utah, developed a new method to analyse high-risk human pedigrees in large, multi-generational families.

The aim was to identify shared regions of the genome likely to harbour disease-causing genes. Although similar approaches have long been successfully used to investigate diseases linked to a single gene, this has classically been challenging for ‘complex’ diseases, where many genes are implicated.

The researchers studied pedigrees from 11 large families where the incidence of multiple myeloma was higher than would be expected by chance. The analysis revealed two regions that may contribute to the disease: one was involved in regulating DNA repair and the second contained key genes involved in packaging DNA inside the cell's nucleus.

The team, publishing in PLoS Genetics, say their findings demonstrate that high-risk pedigrees can be successful for pinning down genes that contribute to complex diseases with appropriate analytics - and could be useful for focusing on the genetic causes underlying other complex diseases, such as diabetes and Alzheimer's disease.

“We are very encouraged by the new method. It certainly plays to the strengths of the large Utah pedigrees, revitalising the family design for complex diseases” said Nicola Camp.

“As we did in this study, the focused regions can be further investigated in smaller families to find genes and specific mutations. The method can be used for any complex disease.

“We are already pursuing large pedigrees in several other domains, including other cancers, psychiatric disorders, birth defects, and pre-term birth phenotypes, with several more genome-wide significant regions found. We're excited about the potential.”

Source: Waller RG, Darlington TM, Wei X et al. Novel pedigree analysis implicates DNA repair and chromatin remodelling in multiple myeloma risk. PLoS Genetics 1 February 2018

Link: https://doi.org/10.1371/journal.pgen.1007111



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